Related gene-specific medical variations for Gene (Select 126805860) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330268	NM_020127.3(TUFT1):c.781C>T (p.Arg261Trp)	LOC126805860, TUFT1 (R236W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184853	NM_020127.3(TUFT1):c.782G>A (p.Arg261Gln)	LOC126805860, TUFT1 (R280Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance